Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia

PURPOSE: Anophthalmia and microphthalmia (A/M) are rare congenital ocular malformations presenting with the absence of eye components or small eyes with or without structural abnormalities. A/M can be isolated or syndromic. The stimulated by retinoic acid gene 6 (STRA6) and Sloan-Kettering viral onc...

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Autors principals: White, Tristan, Lu, Tianyi, Metlapally, Ravikanth, Katowitz, James, Kherani, Femida, Wang, Tian-Yuan, Tran-Viet, Khanh-Nhat, Young, Terri L.
Format: Artigo
Idioma:Inglês
Publicat: Molecular Vision 2008
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Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2610290/
https://ncbi.nlm.nih.gov/pubmed/19112531
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